1/8. Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.- - - - - - - - - - ranking = 1keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
2/8. Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease.Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysphagia or severe (occasionally fatal) hypoglycaemic or hypotensive attacks, related to adrenocortical insufficiency. Onset of adrenal insufficiency or other features may be delayed to adulthood. In contrast with paediatric patients, adult patients with Allgrove's syndrome may present with multisystem neurological disease; the childhood history of achalasia or alacrima may be overlooked. The authors describe two families with two affected siblings and a further unrelated patient with typical clinical features of Allgrove's syndrome, who exhibit signs of multisystem neurological disease including hyperreflexia, muscle wasting, dysarthria, ataxia, optic atrophy, and intellectual impairment. None of the cases have developed adrenal insufficiency but all have progressive neurological disability. Autonomic dysfunction was a significant cause of morbidity in two cases. The three index cases represent the longest described follow up of Allgrove's syndrome into adulthood. It is speculated that they represent a subgroup of patients who follow an often undiagnosed chronic neurological course. Recognition of the syndrome presenting in adult life permits treatment of unrecognised autonomic dysfunction, adrenal insufficiency and dysphagia, and appropriate genetic advice.- - - - - - - - - - ranking = 0.2keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
3/8. Caveolin-3 gene mutation in Japanese with rippling muscle disease.OBJECTIVES: Rippling muscle disease (RMD) is a rare myopathy characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients with autosomal dominant RMD. The objective of this study was to determine whether a similar mutation was present in two Japanese families with this condition. patients AND methods: Clinical examination, mutational analysis, and muscle immunohistochemistry were carried out in six patients from two Japanese RMD pedigrees. RESULTS: Apart from the atrophy of the intrinsic muscles in their hands and a slight muscle weakness in their fingers, the clinical features of our patients were compatible with RMD. Our investigation revealed a CAV3 missense mutation, i.e. Arg26Gln in both families. immunohistochemistry performed on a muscle biopsy specimen showed reduced caveolin-3 surface expression. CONCLUSIONS: Japanese RMD also appears to result from a CAV3 mutation.- - - - - - - - - - ranking = 0.0047896760826164keywords = atrophy (Clic here for more details about this article) |
4/8. s-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.We report studies of a Croatian boy, a proven case of human s-adenosylhomocysteine (AdoHcy) hydrolase deficiency. Psychomotor development was slow until his fifth month; thereafter, virtually absent until treatment was started. He had marked hypotonia with elevated serum creatine kinase and transaminases, prolonged prothrombin time and low albumin. Electron microscopy of muscle showed numerous abnormal myelin figures; liver biopsy showed mild hepatitis with sparse rough endoplasmic reticulum. brain MRI at 12.7 months revealed white matter atrophy and abnormally slow myelination. Hypermethioninemia was present in the initial metabolic study at age 8 months, and persisted (up to 784 microM) without tyrosine elevation. plasma total homocysteine was very slightly elevated for an infant to 14.5-15.9 microM. In plasma, s-adenosylmethionine was 30-fold and AdoHcy 150-fold elevated. Activity of AdoHcy hydrolase was approximately equal to 3% of control in liver and was 5-10% of the control values in red blood cells and cultured fibroblasts. We found no evidence of a soluble inhibitor of the enzyme in extracts of the patient's cultured fibroblasts. Additional pretreatment abnormalities in plasma included low concentrations of phosphatidylcholine and choline, with elevations of guanidinoacetate, betaine, dimethylglycine, and cystathionine. Leukocyte dna was hypermethylated. Gene analysis revealed two mutations in exon 4: a maternally derived stop codon, and a paternally derived missense mutation. We discuss reasons for biochemical abnormalities and pathophysiological aspects of AdoHcy hydrolase deficiency.- - - - - - - - - - ranking = 0.0047896760826164keywords = atrophy (Clic here for more details about this article) |
5/8. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.A review of 88 cases from the literature with personal observations on 3 new patients is given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities. The postmortem in one of our cases is mentioned. The pattern of inheritance is autosomal recessive. The interpretation of the data on diabetes insipidus from the literature and in our three patients is also discussed. It can only be stated that neurohypophyseal diabetes insipidus can be a component of the syndrome and that in many cases--particularly in the presence of lesions of the efferent urinary tract--the possibility of nephrogenous diabetes insipidus can not be excluded with certainty. It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the wolfram syndrome. The process underlying this affection of neural structures remains obscure.- - - - - - - - - - ranking = 1.0012003752447keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
6/8. Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities.We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.- - - - - - - - - - ranking = 0.0012003752447377keywords = optic (Clic here for more details about this article) |
7/8. A dominantly inherited myopathy with excessive tubular aggregates.We studied a family in which seven individuals in three generations had slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness. creatine kinase was normal, and EMG showed only slight "myopathic" changes. Neuromuscular transmission was undisturbed. Muscle biopsies were performed in three patients. About 60 to 90% of all fibers contained tubular aggregates. There was a marked variation in fiber size and a marked type II fiber atrophy. biopsy of an asymptomatic family member was normal. The nature of the underlying disease was obscure.- - - - - - - - - - ranking = 0.0095793521652328keywords = atrophy (Clic here for more details about this article) |
8/8. Smith-Fineman-Myers syndrome in apparently monozygotic twins.We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development. These manifestations resemble those previously described in the Smith-Fineman-Myers syndrome.- - - - - - - - - - ranking = 0.0047896760826164keywords = atrophy (Clic here for more details about this article) |